Incidental Mutation 'R1185:Rsph10b'
ID |
200850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsph10b
|
Ensembl Gene |
ENSMUSG00000075569 |
Gene Name |
radial spoke head 10 homolog B (Chlamydomonas) |
Synonyms |
4930526H21Rik, Rsph10b2 |
MMRRC Submission |
039257-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1185 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
143869853-143922537 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 143903280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166847]
[ENSMUST00000212711]
|
AlphaFold |
E9PYQ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000166847
|
SMART Domains |
Protein: ENSMUSP00000132687 Gene: ENSMUSG00000075569
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
MORN
|
107 |
128 |
5.9e-7 |
SMART |
MORN
|
130 |
151 |
9.35e-1 |
SMART |
MORN
|
153 |
174 |
1.23e0 |
SMART |
MORN
|
177 |
198 |
1.84e0 |
SMART |
MORN
|
202 |
223 |
3.21e1 |
SMART |
MORN
|
225 |
246 |
1.67e-6 |
SMART |
MORN
|
249 |
270 |
1.85e1 |
SMART |
MORN
|
282 |
303 |
2.71e-6 |
SMART |
MORN
|
305 |
326 |
3.53e-5 |
SMART |
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
low complexity region
|
629 |
649 |
N/A |
INTRINSIC |
coiled coil region
|
787 |
841 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167009
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212711
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
Ift70a1 |
A |
T |
2: 75,810,696 (GRCm39) |
N462K |
probably damaging |
Het |
Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
Het |
|
Other mutations in Rsph10b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00419:Rsph10b
|
APN |
5 |
143,873,905 (GRCm39) |
makesense |
probably null |
|
K7894:Rsph10b
|
UTSW |
5 |
143,881,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0136:Rsph10b
|
UTSW |
5 |
143,896,639 (GRCm39) |
missense |
probably benign |
0.05 |
R0149:Rsph10b
|
UTSW |
5 |
143,875,727 (GRCm39) |
unclassified |
probably benign |
|
R0326:Rsph10b
|
UTSW |
5 |
143,903,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R0558:Rsph10b
|
UTSW |
5 |
143,886,156 (GRCm39) |
missense |
probably benign |
0.02 |
R1185:Rsph10b
|
UTSW |
5 |
143,903,280 (GRCm39) |
splice site |
probably benign |
|
R1712:Rsph10b
|
UTSW |
5 |
143,873,967 (GRCm39) |
missense |
probably damaging |
0.96 |
R1832:Rsph10b
|
UTSW |
5 |
143,903,997 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1909:Rsph10b
|
UTSW |
5 |
143,922,309 (GRCm39) |
missense |
probably benign |
0.09 |
R2044:Rsph10b
|
UTSW |
5 |
143,904,068 (GRCm39) |
splice site |
probably null |
|
R2155:Rsph10b
|
UTSW |
5 |
143,898,074 (GRCm39) |
missense |
probably benign |
0.05 |
R2842:Rsph10b
|
UTSW |
5 |
143,916,710 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3805:Rsph10b
|
UTSW |
5 |
143,895,206 (GRCm39) |
critical splice donor site |
probably null |
|
R4031:Rsph10b
|
UTSW |
5 |
143,922,486 (GRCm39) |
splice site |
probably null |
|
R4792:Rsph10b
|
UTSW |
5 |
143,874,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Rsph10b
|
UTSW |
5 |
143,885,347 (GRCm39) |
missense |
probably benign |
0.28 |
R6090:Rsph10b
|
UTSW |
5 |
143,913,946 (GRCm39) |
missense |
probably benign |
0.00 |
R6252:Rsph10b
|
UTSW |
5 |
143,873,939 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6255:Rsph10b
|
UTSW |
5 |
143,896,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R6518:Rsph10b
|
UTSW |
5 |
143,900,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R7085:Rsph10b
|
UTSW |
5 |
143,886,102 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7206:Rsph10b
|
UTSW |
5 |
143,898,010 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7337:Rsph10b
|
UTSW |
5 |
143,898,033 (GRCm39) |
missense |
probably benign |
0.11 |
R7353:Rsph10b
|
UTSW |
5 |
143,904,038 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7567:Rsph10b
|
UTSW |
5 |
143,886,244 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8022:Rsph10b
|
UTSW |
5 |
143,904,050 (GRCm39) |
missense |
probably benign |
0.00 |
R8109:Rsph10b
|
UTSW |
5 |
143,922,348 (GRCm39) |
missense |
probably benign |
0.00 |
R8275:Rsph10b
|
UTSW |
5 |
143,903,323 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8679:Rsph10b
|
UTSW |
5 |
143,887,112 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8947:Rsph10b
|
UTSW |
5 |
143,913,952 (GRCm39) |
missense |
probably benign |
0.01 |
R9020:Rsph10b
|
UTSW |
5 |
143,922,283 (GRCm39) |
missense |
probably benign |
0.05 |
R9189:Rsph10b
|
UTSW |
5 |
143,896,504 (GRCm39) |
missense |
probably benign |
0.05 |
R9319:Rsph10b
|
UTSW |
5 |
143,903,337 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Rsph10b
|
UTSW |
5 |
143,913,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
|
Posted On |
2014-05-23 |